MOL3001 Medisinsk genetikk

Knowledge

The candidate can

• point out central examples of monogenic, polygenic and chromosomal disorders
• demonstrate good knowledge about early developmental genetics including gastrulation
• outline genetic and biochemical mechanisms of some central monogenic disorders
• demonstrate a strong background in mechanisms underlying numerical and structural chromosomal aberrations and principles mediating chromosomal disease
• explain principles for methods of genetic diagnosis, i.e. gene tests and cytogenetic methods
• outline central principles and examples of both sporadic and hereditary cancers
• understand and explain principles and methods for gene mapping
• outline what genetic counselling is, and how it is regulated in different countries

Skills

The candidate can

• discriminate between different patterns of mendelian inheritance of monogenic diseases
• predict correct nomenclature for gene and chromosomal variants
• decide why and when it is necessary to give genetic counselling
• perform risk assessment and calculate risk of being a mutation carrier
• calculate frequencies of genetic variants at the population level

Competence

The candidate can use the knowledge and skills to

• decide in which types of genetic diseases the different genetic diagnostic methods are used
• discuss bioethical issues in medical genetics in an international environment
• discuss and orally present scientific papers within the field of medical genetics

Retake of exam: The student must have completed the mandatory activities to take the exam. If taken in a previous semester, this is sufficient to take the exam. The re-sit of exam in the semester when the course is not taught (fall semester) are for students with legitimate leave of absence at the final examination and students who receive the grade F. The written exam can be changed to an oral exam in the semester when the course is not taught.

The exam must be answered in English.